Rett syndrome: Clinical and genetic aspects
Year: 2020
Type: dissertation
Study design: Observational Study
Abstract: Rett syndrome (RTT) is a neurodevelopmental disorder which is characterized by an apparently normal development in the first 6 to 18 months of life, followed by loss of acquired skills. \nOur overall aim was to describe the genotypic and phenotypic variation in the Norwegian RTT population, and the development of clinical features in different phases of life. \nIn this study, 88% (n=74) of individuals with RTT had a mutation in MECP2. The remaining had mutations in one of five other genes, or no identified pathological mutation at all. Significant differences between individuals with MECP2 mutations and those without were observed. Regardless of mutation, epilepsy continued to be a major concern into adult life. In general, the main health issues examined showed stability in prevalence, regardless of age. \nOverall, adults with RTT have many of the same health challenges as children with RTT. They should therefore be offered the same follow-up in the health care system. In addition, the proven differences between individuals with and without a mutation in MECP2 indicate that the current diagnostic criteria may include individuals with a different disorder under the RTT umbrella.
Author: Mari Wold Henriksen
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W3159769232